Human Gene RAP1GDS1 (ENST00000408927.8_9) from GENCODE V47lift37
  Description: Rap1 GTPase-GDP dissociation stimulator 1, transcript variant 3 (from RefSeq NM_001100427.2)
Gencode Transcript: ENST00000408927.8_9
Gencode Gene: ENSG00000138698.15_12
Transcript (Including UTRs)
   Position: hg19 chr4:99,182,535-99,365,009 Size: 182,475 Total Exon Count: 15 Strand: +
Coding Region
   Position: hg19 chr4:99,182,717-99,363,268 Size: 180,552 Coding Exon Count: 15 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr4:99,182,535-99,365,009)mRNA (may differ from genome)Protein (607 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: GDS1_HUMAN
DESCRIPTION: RecName: Full=Rap1 GTPase-GDP dissociation stimulator 1; AltName: Full=Exchange factor smgGDS; AltName: Full=SMG GDS protein; AltName: Full=SMG P21 stimulatory GDP/GTP exchange protein;
FUNCTION: Stimulates GDP/GTP exchange reaction of a group of small GTP-binding proteins (G proteins) including Rap1a/Rap1b, RhoA, RhoB and KRas, by stimulating the dissociation of GDP from and the subsequent binding of GTP to each small G protein.
SIMILARITY: Contains 5 ARM repeats.
WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/RAP1GDS1ID400.html";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: RAP1GDS1
Diseases sorted by gene-association score: acute lymphocytic leukemia (5)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 21.88 RPKM in Brain - Frontal Cortex (BA9)
Total median expression: 492.02 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -82.70182-0.454 Picture PostScript Text
3' UTR -406.201741-0.233 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR011989 - ARM-like
IPR016024 - ARM-type_fold
IPR000225 - Armadillo

Pfam Domains:
PF00514 - Armadillo/beta-catenin-like repeat

SCOP Domains:
48371 - ARM repeat
48431 - Lipovitellin-phosvitin complex, superhelical domain

ModBase Predicted Comparative 3D Structure on P52306
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005096 GTPase activator activity
GO:0005515 protein binding

Biological Process:
GO:0007264 small GTPase mediated signal transduction
GO:0014829 vascular smooth muscle contraction
GO:0031034 myosin filament assembly
GO:0032471 negative regulation of endoplasmic reticulum calcium ion concentration
GO:0043547 positive regulation of GTPase activity
GO:0051561 positive regulation of mitochondrial calcium ion concentration

Cellular Component:
GO:0005739 mitochondrion
GO:0005783 endoplasmic reticulum
GO:0005829 cytosol
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  AK295156 - Homo sapiens cDNA FLJ54958 complete cds, highly similar to Rap1 GTPase-GDP dissociation stimulator 1.
AK055032 - Homo sapiens cDNA FLJ30470 fis, clone BRAWH1000040, highly similar to Rap1 GTPase-GDP dissociation stimulator 1.
BC001816 - Homo sapiens RAP1, GTP-GDP dissociation stimulator 1, mRNA (cDNA clone MGC:2897 IMAGE:3010166), complete cds.
BC001851 - Homo sapiens RAP1, GTP-GDP dissociation stimulator 1, mRNA (cDNA clone MGC:4525 IMAGE:3010166), complete cds.
BC098269 - Homo sapiens RAP1, GTP-GDP dissociation stimulator 1, mRNA (cDNA clone MGC:118860 IMAGE:40001059), complete cds.
BC098334 - Homo sapiens RAP1, GTP-GDP dissociation stimulator 1, mRNA (cDNA clone MGC:118858 IMAGE:40001057), complete cds.
BC099708 - Homo sapiens RAP1, GTP-GDP dissociation stimulator 1, mRNA (cDNA clone MGC:118859 IMAGE:40001058), complete cds.
BC099845 - Homo sapiens RAP1, GTP-GDP dissociation stimulator 1, mRNA (cDNA clone MGC:118861 IMAGE:40001061), complete cds.
BT006837 - Homo sapiens RAP1, GTP-GDP dissociation stimulator 1 mRNA, complete cds.
DQ890761 - Synthetic construct clone IMAGE:100003391; FLH165746.01X; RZPDo839G03160D RAP1, GTP-GDP dissociation stimulator 1 (RAP1GDS1) gene, encodes complete protein.
KJ897446 - Synthetic construct Homo sapiens clone ccsbBroadEn_06840 RAP1GDS1 gene, encodes complete protein.
AY376900 - Homo sapiens GTP-GDP dissociation stimulator 1 isoform A mRNA, complete cds.
KJ905890 - Synthetic construct Homo sapiens clone ccsbBroadEn_15560 RAP1GDS1 gene, encodes complete protein.
AB464126 - Synthetic construct DNA, clone: pF1KB5988, Homo sapiens RAP1GDS1 gene for RAP1, GTP-GDP dissociation stimulator 1, without stop codon, in Flexi system.
AF215923 - Homo sapiens exchange factor smgGDS mRNA, complete cds, alternatively spliced.
AF237413 - Homo sapiens guanine nucleotide exchange factor smgGDS (RAP1GDS1) mRNA, alternatively spliced, complete cds.
X63465 - H.sapiens hGDS mRNA for smg GDS.
AK297543 - Homo sapiens cDNA FLJ56114 complete cds, highly similar to Rap1 GTPase-GDP dissociation stimulator 1.
AK311243 - Homo sapiens cDNA, FLJ18285.
JD215631 - Sequence 196655 from Patent EP1572962.
JD141756 - Sequence 122780 from Patent EP1572962.
JD023149 - Sequence 4173 from Patent EP1572962.
JD128245 - Sequence 109269 from Patent EP1572962.
JD432770 - Sequence 413794 from Patent EP1572962.
JD432771 - Sequence 413795 from Patent EP1572962.
JD409802 - Sequence 390826 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: E9PH06, ENST00000408927.1, ENST00000408927.2, ENST00000408927.3, ENST00000408927.4, ENST00000408927.5, ENST00000408927.6, ENST00000408927.7, G5E9P9, GDS1_HUMAN, NM_001100427, P52306, Q499L7, Q4KMV2, Q4QQI8, Q9BUW9, Q9BUX6, Q9NYM2, Q9NZA8, RAP1GDS1 , SMGGDS , uc319fcj.1, uc319fcj.2
UCSC ID: ENST00000408927.8_9
RefSeq Accession: NM_001100427.2
Protein: P52306 (aka GDS1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.